Approach to the patient with 17α-hydroxylase/17, 20-lyase deficiency / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 1120-1124, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-468473
ABSTRACT
17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare cause of congenital adrenal hyperplasia.The patient predominantly presents with low-renin hypertension,hypokalemia,lack of secondary sexual development,and in women with primary amenorrhea,in male with pseudohermaphroditism.We herewith analyse the clinical features of a case of 17OHD diagnosed by gene sequencing.And the etiology,clinical manifestations,genetic features,diagnosis and treatment for 17OHD were reviewed.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2014
Type:
Article
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